Canonical Allele Identifier: CA2082809123
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32338524_32338525delinsTG , CM000675.2:g.32338524_32338525delinsTG GRCh38
NC_000013.10:g.32912661_32912662delinsTG , CM000675.1:g.32912661_32912662delinsTG GRCh37
NC_000013.9:g.31810661_31810662delinsTG NCBI36
NG_012772.3:g.28045_28046delinsTG , LRG_293:g.28045_28046delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.4169_4170delinsTG ENSP00000434898.2:p.Leu1390=
ENST00000528762.2:c.4169_4170delinsTG ENSP00000433168.2:p.Leu1390=
ENST00000530893.7:c.3800_3801delinsTG ENSP00000499438.2:p.Leu1267=
ENST00000665585.2:c.4169_4170delinsTG ENSP00000499570.2:p.Leu1390=
ENST00000666593.2:c.4169_4170delinsTG ENSP00000499256.2:p.Leu1390=
ENST00000700202.2:c.4169_4170delinsTG ENSP00000514856.2:p.Leu1390=
ENST00000380152.8:c.4169_4170delinsTG MANE Select ENSP00000369497.3:p.Leu1390=
ENST00000544455.6:c.4169_4170delinsTG ENSP00000439902.1:p.Leu1390=
ENST00000614259.2:c.4169_4170delinsTG ENSP00000506251.1:p.Leu1390=
ENST00000680887.1:c.4169_4170delinsTG ENSP00000505508.1:p.Leu1390=
ENST00000380152.7:c.4169_4170delinsTG ENSP00000369497.3:p.Leu1390=
ENST00000544455.5:c.4169_4170delinsTG ENSP00000439902.1:p.Leu1390=
ENST00000614259.1:n.4169_4170delinsTG
NM_000059.3:c.4169_4170delinsTG , LRG_293t1:c.4169_4170delinsTG NP_000050.2:p.Leu1390=
XM_011535203.1:c.4169_4170delinsTG XP_011533505.1:p.Leu1390=
XM_011535204.1:c.4169_4170delinsTG XP_011533506.1:p.Leu1390=
XM_011535205.1:c.4169_4170delinsTG XP_011533507.1:p.Leu1390=
NM_000059.4:c.4169_4170delinsTG MANE Select NP_000050.3:p.Leu1390=